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- Title
A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis.
- Authors
Ban, M; McCauley, J L; Zuvich, R; Baker, A; Bergamaschi, L; Cox, M; Kemppinen, A; D'Alfonso, S; Guerini, F R; Lechner-Scott, J; Dudbridge, F; Wason, J; Robertson, N P; De Jager, P L; Hafler, D A; Barcellos, L F; Ivinson, A J; Sexton, D; Oksenberg, J R; Hauser, S L
- Abstract
Several single-nucleotide polymorphism (SNP) genome-wide association studies (GWASs) have been completed in multiple sclerosis (MS). Follow-up studies of the variants with the most promising rankings, especially when supplemented by informed candidate gene selection, have proven to be extremely successful. In this study we report the results of a multi-stage replication analysis of the putatively associated SNPs identified in the Wellcome Trust Case Control Consortium non-synonymous SNP (nsSNP) screen. In total, the replication sample consisted of 3444 patients and 2595 controls. A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 (MMEL1; odds ratio=1.16, P=3.54 × 10−6) in MS susceptibility.
- Subjects
GENETICS of multiple sclerosis; GENETIC polymorphisms; NUCLEOTIDES; METALLOPROTEINASES; GENETICS of disease susceptibility; DNA replication; MEMBRANE proteins
- Publication
Genes & Immunity, 2010, Vol 11, Issue 8, p660
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/gene.2010.36